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    NRF1 nuclear respiratory factor 1 [ Homo sapiens (human) ]

    Gene ID: 4899, updated on 27-Nov-2024

    Summary

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    Official Symbol
    NRF1provided by HGNC
    Official Full Name
    nuclear respiratory factor 1provided by HGNC
    Primary source
    HGNC:HGNC:7996
    See related
    Ensembl:ENSG00000106459 MIM:600879; AllianceGenome:HGNC:7996
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    ALPHA-PAL
    Summary
    This gene encodes a protein that homodimerizes and functions as a transcription factor which activates the expression of some key metabolic genes regulating cellular growth and nuclear genes required for respiration, heme biosynthesis, and mitochondrial DNA transcription and replication. The protein has also been associated with the regulation of neurite outgrowth. Alternative splicing results in multiple transcript variants. Confusion has occurred in bibliographic databases due to the shared symbol of NRF1 for this gene and for "nuclear factor (erythroid-derived 2)-like 1" which has an official symbol of NFE2L1. [provided by RefSeq, May 2014]
    Annotation information
    Note: NRF1 (Gene ID: 4899) and NFE2L1 (Gene ID: 4779) share the NRF1 symbol/alias in common. NRF1 is a widely used alternative name for nuclear factor, erythroid 2 like 1 (NFE2L1), which can be confused with the official symbol for nuclear respiratory factor 1 (NRF1). [05 Jul 2018]
    Expression
    Ubiquitous expression in ovary (RPKM 7.4), lymph node (RPKM 5.2) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See NRF1 in Genome Data Viewer
    Location:
    7q32.2
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (129611720..129757076)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (130924847..131070183)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (129251561..129396916)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene striatin interacting protein 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18630 Neighboring gene RNA, U1 small nuclear 72, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18631 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:129166309-129166810 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:129173685-129174202 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:129174203-129174720 Neighboring gene small lysine rich protein 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:129201761-129202261 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26629 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26630 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26631 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18632 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26632 Neighboring gene Sharpr-MPRA regulatory region 6855 Neighboring gene uncharacterized LOC105375501 Neighboring gene RNA, 5S ribosomal pseudogene 244 Neighboring gene microRNA 182

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. The positive regulation loop between NRF1 and NONO-TFE3 fusion promotes phase separation and aggregation of NONO-TFE3 in NONO-TFE3 tRCC. Wang B, et al. Int J Biol Macromol, 2021 Apr 15. PMID 33592266
    2. Skeletal muscle overexpression of nuclear respiratory factor 1 increases glucose transport capacity. Baar K, et al. FASEB J, 2003 Sep. PMID 12958173
    3. In vitro methylation of nuclear respiratory factor-1 binding site suppresses the promoter activity of mitochondrial transcription factor A. Choi YS, et al. Biochem Biophys Res Commun, 2004 Jan 30. PMID 14715254
    4. Nuclear respiratory factor 1 transcriptomic signatures as prognostic indicators of recurring aggressive mesenchymal glioblastoma and resistance to therapy in White American females. Bhawe K, et al. J Cancer Res Clin Oncol, 2022 Jul. PMID 35441887
    5. Nuclear respiratory factor 1 plays an essential role in transcriptional initiation from the hepatitis B virus x gene promoter. Tokusumi Y, et al. J Virol, 2004 Oct. PMID 15452206, Free PMC Article

    See all (162) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Inhibitor of DNA Binding Protein 3 (ID3) and Nuclear Respiratory Factor 1 (NRF1) Mediated Transcriptional Gene Signatures are Associated with the Severity of Cerebral Amyloid Angiopathy.
      Title: Inhibitor of DNA Binding Protein 3 (ID3) and Nuclear Respiratory Factor 1 (NRF1) Mediated Transcriptional Gene Signatures are Associated with the Severity of Cerebral Amyloid Angiopathy.
    2. Molecular mechanism of specific DNA sequence recognition by NRF1.
      Title: Molecular mechanism of specific DNA sequence recognition by NRF1.
    3. NRF1 promotes primordial germ cell development, proliferation and survival.
      Title: NRF1 promotes primordial germ cell development, proliferation and survival.
    4. NRF1 knockdown alleviates lipopolysaccharide-induced pulmonary inflammatory injury by upregulating DKK3 and inhibiting the GSK-3beta/beta-catenin pathway.
      Title: NRF1 knockdown alleviates lipopolysaccharide-induced pulmonary inflammatory injury by upregulating DKK3 and inhibiting the GSK-3β/β-catenin pathway.
    5. NRF1 Alleviated Oxidative Stress of Glioblastoma Cells by Regulating NOR1.
      Title: NRF1 Alleviated Oxidative Stress of Glioblastoma Cells by Regulating NOR1.
    6. Nuclear respiratory factor 1 drives hepatocellular carcinoma progression by activating LPCAT1-ERK1/2-CREB axis.
      Title: Nuclear respiratory factor 1 drives hepatocellular carcinoma progression by activating LPCAT1-ERK1/2-CREB axis.
    7. The Regulatory Role of Nuclear Respiratory Factor 1 in Bladder Cancer Cells.
      Title: The Regulatory Role of Nuclear Respiratory Factor 1 in Bladder Cancer Cells.
    8. The N[6]-methyladenine DNA demethylase ALKBH1 promotes gastric carcinogenesis by disrupting NRF1 binding capacity.
      Title: The N(6)-methyladenine DNA demethylase ALKBH1 promotes gastric carcinogenesis by disrupting NRF1 binding capacity.
    9. UBE4A catalyzes NRF1 ubiquitination and facilitates DDI2-mediated NRF1 cleavage.
      Title: UBE4A catalyzes NRF1 ubiquitination and facilitates DDI2-mediated NRF1 cleavage.
    10. NRF1 Regulates the Epithelial Mesenchymal Transition of Breast Cancer by Modulating ROS Homeostasis.
      Title: NRF1 Regulates the Epithelial Mesenchymal Transition of Breast Cancer by Modulating ROS Homeostasis.
    Submit: New GeneRIF Correction See all GeneRIFs (80)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    HIV-1 interactions

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    Replication interactions

    Interaction Pubs
    Knockdown of nuclear respiratory factor 1 (NRF1) by shRNA library screening inhibits HIV-1 replication in cultured Jurkat T-cells PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA-binding transcription activator activity, RNA polymerase II-specific IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables DNA-binding transcription activator activity, RNA polymerase II-specific IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables DNA-binding transcription factor activity, RNA polymerase II-specific IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables RNA polymerase II cis-regulatory region sequence-specific DNA binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein homodimerization activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Process Evidence Code Pubs
    involved_in positive regulation of transcription by RNA polymerase II IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    located_in extracellular exosome HDA PubMed 
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleus ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    nuclear respiratory factor 1
    Names
    alpha palindromic-binding protein

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001040110.2 → NP_001035199.1  nuclear respiratory factor 1 isoform 1

      See identical proteins and their annotated locations for NP_001035199.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and lacks an alternate in-frame exon in the 3' coding region, compared to variant 3. The encoded protein (isoform 1) is shorter, compared to isoform 2. Variants 1 and 2 encode the same protein (isoform 1).
      Source sequence(s)
      AC078846, AI816827, BC016925, BG742958, BM449724, BM993780, L22454
      Consensus CDS
      CCDS5813.2
      UniProtKB/Swiss-Prot
      A8K4C6, B4DDV6, Q15305, Q16656, Q96AN2
      Related
      ENSP00000376922.2, ENST00000393230.6
      Conserved Domains (2) summary
      pfam10492
      Location:450 → 493
      Nrf1_activ_bdg; Nrf1 activator activation site binding domain
      pfam10491
      Location:87 → 283
      Nrf1_DNA-bind; NLS-binding and DNA-binding and dimerization domains of Nrf1

    2. NM_001293163.2 → NP_001280092.1  nuclear respiratory factor 1 isoform 2

      See identical proteins and their annotated locations for NP_001280092.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) represents the longest transcript and encodes the longest isoform (2).
      Source sequence(s)
      AC084864, BC016925, BM993780, HY166547
      Consensus CDS
      CCDS78273.1
      Related
      ENSP00000309826.2, ENST00000311967.6
      Conserved Domains (2) summary
      pfam10492
      Location:468 → 512
      Nrf1_activ_bdg; Nrf1 activator activation site binding domain
      pfam10491
      Location:87 → 283
      Nrf1_DNA-bind; NLS-binding and DNA-binding and dimerization domains of Nrf1

    3. NM_001293164.2 → NP_001280093.1  nuclear respiratory factor 1 isoform 3

      See identical proteins and their annotated locations for NP_001280093.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR, lacks a portion of the coding region, and initiates translation at a downstream start codon, compared to variant 3. The encoded protein (isoform 3) is shorter, compared to isoform 2.
      Source sequence(s)
      AC084864, AK290891, AK293351, BC016925, BM993780, HY166547
      UniProtKB/Swiss-Prot
      Q16656
      Conserved Domains (1) summary
      pfam10491
      Location:1 → 122
      Nrf1_DNA-bind; NLS-binding and DNA-binding and dimerization domains of Nrf1

    4. NM_005011.5 → NP_005002.3  nuclear respiratory factor 1 isoform 1

      See identical proteins and their annotated locations for NP_005002.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) differs in the 5' UTR and lacks an alternate in-frame exon in the 3' coding region, compared to variant 3. The encoded protein (isoform 1) is shorter, compared to isoform 2. Variants 1 and 2 encode the same protein (isoform 1).
      Source sequence(s)
      AC084864, AK290891, AK293351, BM993780, HY166547
      Consensus CDS
      CCDS5813.2
      UniProtKB/Swiss-Prot
      A8K4C6, B4DDV6, Q15305, Q16656, Q96AN2
      Related
      ENSP00000376924.1, ENST00000393232.6
      Conserved Domains (2) summary
      pfam10492
      Location:450 → 493
      Nrf1_activ_bdg; Nrf1 activator activation site binding domain
      pfam10491
      Location:87 → 283
      Nrf1_DNA-bind; NLS-binding and DNA-binding and dimerization domains of Nrf1

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      129611720..129757076
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      130924847..131070183
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q16656.1 GenPept UniProtKB/Swiss-Prot:Q16656

    Gene LinkOut

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